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Reviewed, UniProtKB/Swiss-Prot Q693B1 (KCD11_HUMAN)

Last modified November 25, 2008. Version 35. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    BTB/POZ domain-containing protein KCTD11
Gene names
Name: KCTD11
Synonyms: C17orf36, REN
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length232 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Play a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor. Induces apoptosis, growth arrest and the expression of cyclin-dependent kinase inhibitor CDKN1B. Plays a role as a tumor repressor and inhibits cell growth and tumorigenicity of medulloblastoma (MDB). Functions as antagonist of the Hedgehog pathway on cell proliferation and differentiation by affecting the nuclear transfer of transcrition factor GLI1, thus maintaining cerebellar granule cells in undifferentiated state. When knock-down, Hedgehog antagonism is impaired and proliferation of granule cells is sustained. Activates the caspase cascade.

Tissue specificity

Higher expression in cerebellum than in whole brain and lower expression in medulloblastoma.

Domain

The BTB domain is required for growth-suppressing properties.

Involvement in disease

Haploinsufficiency of KCTD11 may be a cause of development of medulloblastoma (MDB). MDB is a malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. An allelic deletion involving genes from chromosome region 17p11.2-pter, sometimes restricted to 17p13.2-13.3, occurs in up to 50% of MDB.

Sequence similarities

Contains 1 BTB (POZ) domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 232232BTB/POZ domain-containing protein KCTD11
PRO_0000248591

Regions

Domain1 – 4949BTB

Natural variations

Natural variant221G → S: dbSNP rs8080182.
VAR_027354

Sequences

Sequence LengthMass (Da)Tools
Q693B1-1 [UniParc].

Last modified September 13, 2004. Version 1.
Checksum: 7F075902E4259B2D

FASTA23225,887
        10         20         30         40         50         60 
MLGAMFRAGT PMPPNLNSQG GGHYFIDRDG KAFRHILNFL RLGRLDLPRG YGETALLRAE 

        70         80         90        100        110        120 
ADFYQIRPLL DALRELEASQ GTPAPTAALL HADVDVSPRL VHFSARRGPH HYELSSVQVD 

       130        140        150        160        170        180 
TFRANLFCTD SECLGALRAR FGVASGDRAE GSPHFHLEWA PRPVELPEVE YGRLGLQPLW 

       190        200        210        220        230 
TGGPGERREV VGTPSFLEEV LRVALEHGFR LDSVFPDPED LLNSRSLRFV RH 

« Hide

References

« Hide 'large scale' references
[1]"REN(KCTD11) is a suppressor of Hedgehog signaling and is deleted in human medulloblastoma."
Di Marcotullio L., Ferretti E., De Smaele E., Argenti B., Mincione C., Zazzeroni F., Gallo R., Masuelli L., Napolitano M., Maroder M., Modesti A., Giangaspero F., Screpanti I., Alesse E., Gulino A.
Proc. Natl. Acad. Sci. U.S.A. 101:10833-10838(2004) [PubMed: 15249678] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, CHARACTERIZATION OF BTB DOMAIN, DISEASE.
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].

Cross-references

Sequence databases

AY646650 mRNA. Translation: AAT75307.1.
BC110598 mRNA. Translation: AAI10599.1.
RefSeqNP_001002914.1.
UniGeneHs.592112

3D structure databases

ModBaseSearch...

PTM databases

PhosphoSiteQ693B1.

Genome annotation databases

EnsemblENSG00000213859. Homo sapiens. [Contig view]
GeneID147040.
KEGGhsa:147040.

Organism-specific databases

HGNCHGNC:21302. KCTD11.
MIM609848. gene.
PharmGKBPA134890547.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOVERGENQ693B1.

Gene expression databases

ArrayExpressQ693B1.
CleanExHS_KCTD11.
HS_REN.
GermOnlineENSG00000072818. Homo sapiens.

Family and domain databases

InterProIPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR003131. K_chnl_volt-dep_Kv_tetra.
[Graphical view]
Gene3DG3DSA:3.30.710.10. BTB/POZ_fold. 1 hit.
PfamPF02214. K_tetra. 1 hit.
[Graphical view]
PROSITEPS50097. BTB. False negative.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio85535.
SOURCESearch...

Entry information

Entry nameKCD11_HUMAN
AccessionPrimary (citable) accession number: Q693B1
Entry history
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: September 13, 2004
Last modified: November 25, 2008
This is version 35 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents